Mutagenetix > Incidental Mutation

Incidental Mutation 'R1489:Adam6b'

163617

Institutional Source

Beutler Lab

Gene Symbol

Adam6b

Ensembl Gene

ENSMUSG00000051804

Gene Name

a disintegrin and metallopeptidase domain 6B

Synonyms

4930523C11Rik

MMRRC Submission

039541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113453185-113455455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113455071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 629 (S629R)

Ref Sequence

ENSEMBL: ENSMUSP00000065529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063317]

AlphaFold

Q6IMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000063317
AA Change: S629R

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: S629R

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	30	167	1.1e-16	PFAM
Pfam:Reprolysin	223	407	1.1e-14	PFAM
DISIN	427	502	9.2e-33	SMART
ACR	503	640	2.74e-60	SMART
transmembrane domain	704	726	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,106,295 (GRCm39)	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,362,654 (GRCm39)	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,736,300 (GRCm39)		probably null	Het
Adam39	A	G	8: 41,278,031 (GRCm39)	T141A	possibly damaging	Het
Ap3b2	C	A	7: 81,113,438 (GRCm39)	E924*	probably null	Het
Armc3	A	T	2: 19,314,858 (GRCm39)	Y856F	probably benign	Het
Asap1	A	G	15: 64,044,579 (GRCm39)	L142P	probably damaging	Het
Atg9a	T	A	1: 75,162,734 (GRCm39)	D427V	probably damaging	Het
Atl2	G	A	17: 80,160,135 (GRCm39)	A17V	probably benign	Het
Atxn2l	A	T	7: 126,095,639 (GRCm39)	S379T	probably damaging	Het
C1ql3	G	T	2: 13,015,453 (GRCm39)	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,763,111 (GRCm39)	I114F	probably damaging	Het
Ccdc168	A	G	1: 44,096,950 (GRCm39)	F1383L	probably benign	Het
Ccdc168	T	C	1: 44,100,667 (GRCm39)	I144V	probably benign	Het
Cox16	T	C	12: 81,521,389 (GRCm39)	N135S	probably null	Het
Dnajc13	A	T	9: 104,108,234 (GRCm39)	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,424,835 (GRCm39)	Y73*	probably null	Het
Duox2	T	A	2: 122,123,877 (GRCm39)	M436L	probably benign	Het
Exoc6	T	A	19: 37,585,568 (GRCm39)	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,702,829 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,195,557 (GRCm39)	V419E	unknown	Het
Fndc4	T	C	5: 31,450,795 (GRCm39)	*232W	probably null	Het
Foxc1	C	T	13: 31,992,595 (GRCm39)	R469*	probably null	Het
Fsip2	A	G	2: 82,810,155 (GRCm39)	H2158R	probably benign	Het
Ghdc	C	T	11: 100,659,083 (GRCm39)	G373D	probably benign	Het
Gm10330	A	T	12: 23,830,032 (GRCm39)	S50T	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,690,108 (GRCm39)	V650A	probably damaging	Het
Map1a	T	C	2: 121,130,918 (GRCm39)	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,229,740 (GRCm39)	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,264,976 (GRCm39)	K175R	probably benign	Het
Mia3	A	G	1: 183,120,121 (GRCm39)	S85P	probably benign	Het
Myrip	T	C	9: 120,261,595 (GRCm39)	F403L	probably damaging	Het
Nox4	A	G	7: 86,954,097 (GRCm39)	Y134C	probably damaging	Het
Numb	A	G	12: 83,842,217 (GRCm39)	L642P	probably damaging	Het
Pappa	A	T	4: 65,099,185 (GRCm39)	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,575,593 (GRCm39)	L333P	probably benign	Het
Prl	A	T	13: 27,241,619 (GRCm39)	S3C	probably damaging	Het
Ptprc	T	C	1: 138,047,824 (GRCm39)	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Smpd1	T	C	7: 105,205,761 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,058,891 (GRCm39)	E1942G	probably damaging	Het
Tmem38a	A	G	8: 73,333,479 (GRCm39)	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,510,524 (GRCm39)	Y232*	probably null	Het
Tpte	T	C	8: 22,839,405 (GRCm39)		probably null	Het
Virma	T	C	4: 11,521,164 (GRCm39)	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,453,981 (GRCm39)	Q216*	probably null	Het
Zswim3	T	C	2: 164,661,901 (GRCm39)	V127A	probably benign	Het

Other mutations in Adam6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adam6b	APN	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
IGL00800:Adam6b	APN	12	113,454,062 (GRCm39)	missense	probably benign	0.24
IGL01456:Adam6b	APN	12	113,455,083 (GRCm39)	missense	probably benign	0.30
IGL02232:Adam6b	APN	12	113,454,764 (GRCm39)	missense	probably benign	0.06
IGL03039:Adam6b	APN	12	113,454,502 (GRCm39)	missense	probably damaging	1.00
IGL03399:Adam6b	APN	12	113,454,728 (GRCm39)	missense	probably damaging	0.97
IGL03412:Adam6b	APN	12	113,455,390 (GRCm39)	nonsense	probably null
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0234:Adam6b	UTSW	12	113,454,230 (GRCm39)	missense	probably damaging	0.98
R0373:Adam6b	UTSW	12	113,454,275 (GRCm39)	missense	probably benign	0.15
R0402:Adam6b	UTSW	12	113,453,615 (GRCm39)	missense	probably damaging	0.96
R0420:Adam6b	UTSW	12	113,453,614 (GRCm39)	missense	probably benign	0.02
R0573:Adam6b	UTSW	12	113,455,278 (GRCm39)	missense	possibly damaging	0.90
R0884:Adam6b	UTSW	12	113,454,615 (GRCm39)	missense	probably damaging	1.00
R1542:Adam6b	UTSW	12	113,454,559 (GRCm39)	missense	possibly damaging	0.53
R1591:Adam6b	UTSW	12	113,453,452 (GRCm39)	missense	probably benign	0.07
R1596:Adam6b	UTSW	12	113,454,646 (GRCm39)	missense	probably damaging	1.00
R1675:Adam6b	UTSW	12	113,454,664 (GRCm39)	missense	probably benign	0.00
R1699:Adam6b	UTSW	12	113,454,205 (GRCm39)	missense	probably benign	0.02
R1818:Adam6b	UTSW	12	113,454,876 (GRCm39)	missense	probably benign	0.15
R1829:Adam6b	UTSW	12	113,453,545 (GRCm39)	missense	probably damaging	1.00
R1851:Adam6b	UTSW	12	113,455,442 (GRCm39)	missense	probably benign	0.44
R1955:Adam6b	UTSW	12	113,455,436 (GRCm39)	missense	probably benign	0.16
R2040:Adam6b	UTSW	12	113,454,364 (GRCm39)	missense	probably benign	0.34
R3820:Adam6b	UTSW	12	113,453,984 (GRCm39)	missense	probably benign	0.38
R4112:Adam6b	UTSW	12	113,453,256 (GRCm39)	missense	possibly damaging	0.85
R4434:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4435:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4437:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4438:Adam6b	UTSW	12	113,454,281 (GRCm39)	missense	probably damaging	1.00
R4509:Adam6b	UTSW	12	113,453,972 (GRCm39)	missense	probably benign	0.02
R5034:Adam6b	UTSW	12	113,454,547 (GRCm39)	missense	probably damaging	1.00
R5316:Adam6b	UTSW	12	113,455,013 (GRCm39)	missense	probably damaging	1.00
R5330:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5331:Adam6b	UTSW	12	113,454,200 (GRCm39)	missense	possibly damaging	0.45
R5604:Adam6b	UTSW	12	113,454,420 (GRCm39)	nonsense	probably null
R5698:Adam6b	UTSW	12	113,455,083 (GRCm39)	missense	probably benign	0.30
R5877:Adam6b	UTSW	12	113,453,822 (GRCm39)	missense	probably damaging	1.00
R6235:Adam6b	UTSW	12	113,455,330 (GRCm39)	missense	probably benign
R6254:Adam6b	UTSW	12	113,453,190 (GRCm39)	missense	probably damaging	0.99
R6371:Adam6b	UTSW	12	113,453,894 (GRCm39)	missense	probably damaging	0.99
R6617:Adam6b	UTSW	12	113,454,152 (GRCm39)	missense	possibly damaging	0.78
R6768:Adam6b	UTSW	12	113,453,863 (GRCm39)	missense	probably benign	0.01
R7002:Adam6b	UTSW	12	113,453,327 (GRCm39)	nonsense	probably null
R7003:Adam6b	UTSW	12	113,453,662 (GRCm39)	nonsense	probably null
R7049:Adam6b	UTSW	12	113,454,122 (GRCm39)	missense	probably damaging	0.99
R7313:Adam6b	UTSW	12	113,454,754 (GRCm39)	missense	probably benign	0.00
R7372:Adam6b	UTSW	12	113,453,784 (GRCm39)	missense	probably benign	0.24
R7684:Adam6b	UTSW	12	113,455,196 (GRCm39)	nonsense	probably null
R7777:Adam6b	UTSW	12	113,453,758 (GRCm39)	missense	possibly damaging	0.93
R7781:Adam6b	UTSW	12	113,454,962 (GRCm39)	missense	probably damaging	1.00
R7857:Adam6b	UTSW	12	113,454,104 (GRCm39)	missense	probably benign	0.09
R8196:Adam6b	UTSW	12	113,454,087 (GRCm39)	missense	probably benign	0.19
R8423:Adam6b	UTSW	12	113,454,530 (GRCm39)	missense	possibly damaging	0.77
R8680:Adam6b	UTSW	12	113,454,371 (GRCm39)	missense	probably benign	0.05
R8762:Adam6b	UTSW	12	113,453,227 (GRCm39)	missense	probably damaging	0.98
R8792:Adam6b	UTSW	12	113,455,310 (GRCm39)	missense	possibly damaging	0.75
R8806:Adam6b	UTSW	12	113,455,418 (GRCm39)	missense	possibly damaging	0.90
R8880:Adam6b	UTSW	12	113,454,764 (GRCm39)	missense	probably benign
R8977:Adam6b	UTSW	12	113,453,996 (GRCm39)	missense	probably benign	0.02
R8987:Adam6b	UTSW	12	113,454,748 (GRCm39)	missense	probably damaging	1.00
R9101:Adam6b	UTSW	12	113,455,376 (GRCm39)	missense	probably benign	0.22
R9103:Adam6b	UTSW	12	113,454,558 (GRCm39)	nonsense	probably null
R9334:Adam6b	UTSW	12	113,454,768 (GRCm39)	missense	probably damaging	1.00
R9641:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9683:Adam6b	UTSW	12	113,454,176 (GRCm39)	missense	probably benign
R9796:Adam6b	UTSW	12	113,454,272 (GRCm39)	missense	probably damaging	1.00
RF012:Adam6b	UTSW	12	113,453,552 (GRCm39)	missense	probably damaging	1.00
RF022:Adam6b	UTSW	12	113,455,289 (GRCm39)	missense	possibly damaging	0.90
T0722:Adam6b	UTSW	12	113,454,888 (GRCm39)	missense	probably benign	0.11
T0722:Adam6b	UTSW	12	113,453,197 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGTGGAAGGTTGCAGTGTACCAATG -3'
(R):5'- CCTACACGAGTGGCAATGCCAAAG -3'

Sequencing Primer
(F):5'- GTTGCAGTGTACCAATGTCACC -3'
(R):5'- aactggaggggacccac -3'

Posted On

2014-03-28